NM_004895.5:c.2861C>T

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  2. NM_004895.5:c.2861C>T

HGVS Expressions

  • NG_007509.2:g.33499C>T
  • NM_004895.5:c.2861C>T
  • NP_004886.3:p.Thr954Met
  • NC_000001.11:g.247444671C>T

Associated Genes

NLR Family, Pyrin Domain-Containing 3
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

139814109

Clinvar

234293

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249100.24Lebanon1Uncertain SignificanceFamilial Mediterranean FeverUmar et al, 2020
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Contributors

  • Sayeeda Hana: 03.02.2021

Edit History

  • Sayeeda Hana: 17.02.2021
  • Sayeeda Hana: 16.02.2021
  • Sayeeda Hana: 11.02.2021
  • Sayeeda Hana: 03.02.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.